ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Degenerative disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		0.020 GeneticVariation group BEFREE Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss. 29145636 2018
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		0.020 GeneticVariation group BEFREE Mutations in ABCA4 are responsible for Stargardt disease, a degenerative disorder associated with severe loss in central vision. 24097981 2013